Canonical Allele Identifier: CA399304431

Gene: ERBB2

Linked Data

• dbSNP Id: rs1295382957
• gnomAD v2: 17-37881354-G-A
• gnomAD v3: 17-39725101-G-A
• gnomAD v4: 17-39725101-G-A
• COSMIC: COSM4990986 ; COSM4990987
• MyVariant Identifiers: chr17:g.37881354G>A (hg19) ; chr17:g.39725101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725101G>A , CM000679.2:g.39725101G>A	GRCh38
NC_000017.10:g.37881354G>A , CM000679.1:g.37881354G>A	GRCh37
NC_000017.9:g.35134880G>A	NCBI36
NG_007503.1:g.41962G>A , LRG_724:g.41962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2546G>A MANE Select	ENSP00000269571.4:p.Arg849Gln
ENST00000269571.9:c.2546G>A	ENSP00000269571.4:p.Arg849Gln
ENST00000406381.6:c.2456G>A	ENSP00000385185.2:p.Arg819Gln
ENST00000445658.6:c.1718G>A	ENSP00000404047.2:p.Arg573Gln
ENST00000541774.5:c.2501G>A	ENSP00000446466.1:p.Arg834Gln
ENST00000578373.5:c.*2336G>A	ENSP00000463427.1:n.*2336G>A
ENST00000580074.1:c.652G>A
ENST00000583038.5:n.3680G>A
ENST00000584450.5:c.2546G>A	ENSP00000463714.1:p.Arg849Gln
ENST00000584601.5:c.2456G>A	ENSP00000462438.1:p.Arg819Gln
NM_001005862.2:c.2456G>A , LRG_724t1:c.2456G>A	NP_001005862.1:p.Arg819Gln
NM_001289936.1:c.2501G>A , LRG_724t4:c.2501G>A	NP_001276865.1:p.Arg834Gln
NM_001289937.1:c.2546G>A	NP_001276866.1:p.Arg849Gln
NM_004448.3:c.2546G>A , LRG_724t2:c.2546G>A	NP_004439.2:p.Arg849Gln
NR_110535.1:n.2870G>A
XM_024450641.1:c.2684G>A	XP_024306409.1:p.Arg895Gln
XM_024450642.1:c.2639G>A	XP_024306410.1:p.Arg880Gln
XM_024450643.1:c.2594G>A	XP_024306411.1:p.Arg865Gln
NM_001005862.3:c.2456G>A	NP_001005862.1:p.Arg819Gln
NM_001289936.2:c.2501G>A	NP_001276865.1:p.Arg834Gln
NM_001289937.2:c.2546G>A	NP_001276866.1:p.Arg849Gln
NM_001382782.1:c.2456G>A	NP_001369711.1:p.Arg819Gln
NM_001382783.1:c.2456G>A	NP_001369712.1:p.Arg819Gln
NM_001382784.1:c.2663G>A	NP_001369713.1:p.Arg888Gln
NM_001382785.1:c.2648G>A	NP_001369714.1:p.Arg883Gln
NM_001382786.1:c.2627G>A	NP_001369715.1:p.Arg876Gln
NM_001382787.1:c.2621G>A	NP_001369716.1:p.Arg874Gln
NM_001382788.1:c.2576G>A	NP_001369717.1:p.Arg859Gln
NM_001382789.1:c.2567G>A	NP_001369718.1:p.Arg856Gln
NM_001382790.1:c.2543G>A	NP_001369719.1:p.Arg848Gln
NM_001382791.1:c.2537G>A	NP_001369720.1:p.Arg846Gln
NM_001382792.1:c.2510G>A	NP_001369721.1:p.Arg837Gln
NM_001382793.1:c.2504G>A	NP_001369722.1:p.Arg835Gln
NM_001382794.1:c.2504G>A	NP_001369723.1:p.Arg835Gln
NM_001382795.1:c.2498G>A	NP_001369724.1:p.Arg833Gln
NM_001382796.1:c.2546G>A	NP_001369725.1:p.Arg849Gln
NM_001382797.1:c.2447G>A	NP_001369726.1:p.Arg816Gln
NM_001382798.1:c.2493+190G>A	NP_001369727.1:n.2493+190G>A
NM_001382799.1:c.2366G>A	NP_001369728.1:p.Arg789Gln
NM_001382800.1:c.2360G>A	NP_001369729.1:p.Arg787Gln
NM_001382801.1:c.2445+190G>A	NP_001369730.1:n.2445+190G>A
NM_001382802.1:c.2288G>A	NP_001369731.1:p.Arg763Gln
NM_001382803.1:c.2504G>A	NP_001369732.1:p.Arg835Gln
NM_001382804.1:c.1718G>A	NP_001369733.1:p.Arg573Gln
NM_001382805.1:c.2208+1441G>A	NP_001369734.1:n.2208+1441G>A
NM_001382806.1:c.1508G>A	NP_001369735.1:p.Arg503Gln
NM_004448.4:c.2546G>A MANE Select	NP_004439.2:p.Arg849Gln
NR_110535.2:n.2784G>A